Netterwala A, Padaki P, Savio J
… +4 more, Deepalam SR, Bhardwaj S, Goddu Govindappa SK, Mathew T
BMJ Case Rep
· 2026 May · PMID 42209033
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Idiopathic intracranial hypertension (IIH) is a diagnosis of exclusion, and venous sinus stenosis may coexist with IIH, making careful evaluation for secondary causes essential. We report an immunocompetent man in late 3...Idiopathic intracranial hypertension (IIH) is a diagnosis of exclusion, and venous sinus stenosis may coexist with IIH, making careful evaluation for secondary causes essential. We report an immunocompetent man in late 30s who presented with headache and visual blurring. Brain MRI demonstrated features of raised intracranial pressure with transverse sinus stenosis. Lumbar puncture revealed high opening pressure and IIH was presumed. The patient underwent left transverse-sigmoid sinus stenting with transient improvement, followed by recurrent headache and rapid visual deterioration. Repeat angiography demonstrated new venous narrowing, prompting stent extension. Re-evaluation of cerebrospinal fluid cultures grew on Sabouraud dextrose agar. Induction therapy with amphotericin B plus flucytosine, followed by fluconazole maintenance, resulted in complete resolution of headache. This case highlights that meningitis can mimic IIH, and that cerebrospinal fluid cryptococcal evaluation is essential before confirming a diagnosis of IIH or proceeding with venous sinus stenting.
BMJ Case Rep
· 2026 May · PMID 42209032
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A woman in her 80s with a background of a coronary artery bypass graft (CABG) presented with chest pain. Initial investigations revealed an elevated D-dimer, normocytic anaemia and right-sided pleural effusion. CT pulmon...A woman in her 80s with a background of a coronary artery bypass graft (CABG) presented with chest pain. Initial investigations revealed an elevated D-dimer, normocytic anaemia and right-sided pleural effusion. CT pulmonary angiogram ruled out a pulmonary embolism but revealed an incidental cyst-like rounded lesion next to the ascending aorta. A triphasic CT of the chest confirmed this to be an aneurysm arising from the right coronary artery bypass vein graft, measuring 5.4 cm. After the multidisciplinary team meeting discussion, the likely diagnosis was thought to be a ruptured aneurysm, leading to a haematoma formation and right-sided haemothorax. Conservative management was chosen following multidisciplinary discussion and shared decision-making with the patient and family, and patient unfortunately did not survive admission. This case highlights rare and life-threatening complication of vein graft aneurysms and the importance of early recognition and individualised management plans.
Kaliyamurthi K, Babu V, Gopalraj A
… +1 more, Krishnamurthy B
BMJ Case Rep
· 2026 May · PMID 42209031
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Solitary extramedullary plasmacytoma (SEP) is a rare plasma cell tumour that occurs in soft tissues without systemic involvement. This report describes a rare case of SEP in the nasal cavity, highlighting the diagnostic...Solitary extramedullary plasmacytoma (SEP) is a rare plasma cell tumour that occurs in soft tissues without systemic involvement. This report describes a rare case of SEP in the nasal cavity, highlighting the diagnostic journey and treatment approach. The patient's nonspecific symptoms, such as right-sided nasal bleeding and facial pain, initially mimicked common nasal disorders. However, the persistence of these symptoms and the discovery of a polypoid mass on nasal endoscopy raised suspicions of a more serious underlying condition, leading to further investigation. Histopathological analysis confirmed SEP after excluding systemic myeloma. Investigations revealed normal renal function, calcium levels, blood counts and no lytic lesions on imaging. Serum and urine electrophoresis were negative for monoclonal proteins, and bone marrow examination revealed less than 10% plasma cells. The patient received curative radiotherapy. Early follow-up showed clinical stability and a structured multidisciplinary follow-up plan was instituted to monitor disease recurrence or progression to multiple myeloma.
BMJ Case Rep
· 2026 May · PMID 42209030
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A previously asymptomatic male infant presented with persistent fever for 4 weeks with progressive abdominal distension due to hepatosplenomegaly. Investigations were suggestive of bicytopenia. His fever was non-responsi...A previously asymptomatic male infant presented with persistent fever for 4 weeks with progressive abdominal distension due to hepatosplenomegaly. Investigations were suggestive of bicytopenia. His fever was non-responsive to intravenous antibiotics. Blood and urine cultures were sterile. Bone marrow showed normal haematopoiesis with evidence of yeast forms of inside erythroblasts. Urine was positive for histoplasma antigen. The infant responded to intravenous liposomal amphotericin B. Fever resolved, anaemia and thrombocytopenia recovered. Hence, we report this case of an infant with disseminated histoplasmosis presenting with fever, hepatosplenomegaly and bicytopenia.
BMJ Case Rep
· 2026 May · PMID 42209029
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We report the case of a woman with metastatic alveolar soft part sarcoma (ASPS) who experienced pregnancy-associated disease progression followed by unexpected postpartum regression. Pulmonary lesions increased in size a...We report the case of a woman with metastatic alveolar soft part sarcoma (ASPS) who experienced pregnancy-associated disease progression followed by unexpected postpartum regression. Pulmonary lesions increased in size after a miscarriage and during a subsequent pregnancy, prompting consideration for systemic treatment and potential enrolment in a clinical trial evaluating a tyrosine kinase inhibitor in combination with an immune checkpoint inhibitor. However, baseline staging CT performed a few weeks postpartum unexpectedly demonstrated marked spontaneous regression. Because trial enrolment required Response Evaluation Criteria in Solid Tumors-defined radiographic progression, she was deemed ineligible, and no systemic therapy was initiated. Surveillance imaging over the following 2 years confirmed sustained regression and stability of residual disease in the absence of treatment. This case highlights the potential influence of pregnancy-to-postpartum physiology on tumour behaviour through hormonal, immune and angiogenic mechanisms. It also emphasises the importance of short-interval reassessment after delivery before initiation of systemic therapy in reproductive-age patients with metastatic ASPS.
Hoeter K, Marriott L, Neuberger EWI
… +5 more, Dagwadordsch U, Kumar RS, Simon P, Bodenstein M, Kersaudy-Kerhoas M
BMJ Case Rep
· 2026 May · PMID 42209028
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A patient with a complex urological history presented with abdominal pain and respiratory distress after catheter dysfunction. She underwent emergency surgery for a ruptured urinary pouch. Sepsis was later diagnosed base...A patient with a complex urological history presented with abdominal pain and respiratory distress after catheter dysfunction. She underwent emergency surgery for a ruptured urinary pouch. Sepsis was later diagnosed based on clinical deterioration, including tachycardia, fever, an elevated respiratory rate and raised inflammatory markers, but blood cultures remained negative. A metagenomic microbial cell-free DNA (cfDNA) assay (iSEP-SEQ), performed early from plasma as part of a research protocol, identified and at the genus level. Results were obtained retrospectively and were not available in real time; therefore, they did not alter immediate management. These findings were confirmed by cultures from drainage fluid and urine. Broad-spectrum antibiotic treatment led to clinical improvement. This case highlights the limitations of conventional microbiological methods in culture-negative sepsis and illustrates the role of cfDNA-based metagenomic testing as an adjunctive and complementary diagnostic tool for early, accurate pathogen detection. Early use of such tools may support timely and targeted management in complex infectious disease presentations.
Alsalem M, Uthpali N, Thompson CS
… +1 more, Possamai V
BMJ Case Rep
· 2026 May · PMID 42209027
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Multiple endocrine neoplasia type 2B (MEN-2B) syndrome is a genetic disorder that predisposes to the development of tumours in the mouth, eyes and endocrine glands. It is associated with mucosal neuromas; however, laryng...Multiple endocrine neoplasia type 2B (MEN-2B) syndrome is a genetic disorder that predisposes to the development of tumours in the mouth, eyes and endocrine glands. It is associated with mucosal neuromas; however, laryngeal mucosal neuromas are very rare. We describe an adolescent with MEN-2B who presented with dysphonia, nocturnal stridor and exertional dyspnoea following a total thyroidectomy for an invasive medullary thyroid carcinoma with right recurrent laryngeal nerve sacrifice.Following initial assessment, laryngeal stroboscopy was performed, followed by a microlaryngobronchoscopy under general anaesthetic. A lesion was identified on the left vocal process that underwent debulking. Histopathological findings were consistent with mucosal neuromas.Laryngeal neuromas are rare in the context of MEN-2B and can pose significant diagnostic challenges, particularly in a patient with other airway pathologies. An awareness of different clinical features of MEN-2B is important to consider in differential diagnoses, and biopsy and histopathological analysis are essential for diagnostic purposes.
Siddique H, Mughal Z, Jeyaretna S
… +1 more, Qureishi A
BMJ Case Rep
· 2026 May · PMID 42209026
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A woman in her 60s presented with an 8-month history of right-sided facial pain, with new reduced visual acuity, bilateral diplopia, restricted right extraocular movements and red desaturation. Her comorbidities included...A woman in her 60s presented with an 8-month history of right-sided facial pain, with new reduced visual acuity, bilateral diplopia, restricted right extraocular movements and red desaturation. Her comorbidities included relapsing-remitting multiple sclerosis, breast cancer and type 2 diabetes mellitus. Imaging showed an aggressive sinonasal process with erosion into the right orbit, skull base and cavernous sinus. Biopsy confirmed invasive fungal sinusitis with septate hyphae and culture identified Aspergillus fumigatus.Initial treatment with amphotericin B was complicated by acute kidney injury, prompting a switch to posaconazole. Due to disease progression, therapy was escalated to isavuconazole, alongside right orbital exenteration and skull-base debridement.At 12 months, she was symptom-free and remains on lifelong isavuconazole; MRI at 16 months showed no recurrence.This case highlights diagnostic challenges, targeted antifungal therapy and multidisciplinary surgical management in advanced sino-orbital aspergillosis, alongside the ethical complexity of choosing radical surgery over palliation with intracranial extension.
McGuigan E, Hubbard H, Anderson O
… +6 more, Millar F, Will M, Giavedoni S, Bramah R, Phillips I, Plant T
BMJ Case Rep
· 2026 May · PMID 42209025
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SummaryWe present a case of allergic bronchopulmonary mycosis due to mimicking lung cancer in an immunocompetent woman in her early 70s. She had a 6-week history of dry cough and chest X-ray changes concerning for malig...SummaryWe present a case of allergic bronchopulmonary mycosis due to mimicking lung cancer in an immunocompetent woman in her early 70s. She had a 6-week history of dry cough and chest X-ray changes concerning for malignancy. CT initially suggested primary lung cancer. Blood tests showed eosinophilia (4.2×10⁹/L) and moderately elevated total IgE (296 IU/mL). Aspergillus precipitins were mildly raised (140 mgA/L), but no -specific growth or serological sensitisation was found. She developed acute respiratory distress requiring emergency cardiothoracic intervention for near-total collapse of the left lung caused by occlusion of the left main bronchus, initially presumed malignant. Bronchoscopy revealed a large mucus plug obstructing the bronchus, which was removed, with no visual tumour. Bronchial washings showed reactive bronchial epithelium without malignancy, and sputum cultures taken during bronchoscopy identified .
BMJ Case Rep
· 2026 May · PMID 42209024
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Guillain-Barre syndrome (GBS) is an acute immune-mediated polyneuropathy classically presenting with ascending lower limb weakness; however, rare regional variants may pose diagnostic challenges. We report a case of an u...Guillain-Barre syndrome (GBS) is an acute immune-mediated polyneuropathy classically presenting with ascending lower limb weakness; however, rare regional variants may pose diagnostic challenges. We report a case of an unusual upper limb-predominant variant of GBS following a self-limiting diarrhoeal illness, presenting with acute shoulder pain, progressive bilateral hand paraesthesia and upper limb weakness without lower limb, bulbar or cranial nerve involvement. Neurological examination demonstrated proximal and distal upper limb weakness with upper limb hyporeflexia. Cerebrospinal fluid analysis revealed albumin-cytologic dissociation; anti-GM1 antibodies were positive; cervical spine MRI excluded structural pathology and nerve conduction studies confirmed an axonal motor neuropathy consistent with the acute motor axonal neuropathy variant of GBS. The patient was treated with a 5-day course of intravenous immunoglobulin alongside physiotherapy, resulting in gradual neurological recovery and functional improvement. This case emphasises the importance of recognising atypical regional presentations of GBS to facilitate timely diagnosis and prompt initiation of immunomodulatory therapy.
BMJ Case Rep
· 2026 May · PMID 42209023
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Hereditary haemorrhagic telangiectasia (HHT) is an uncommon autosomal dominant vascular disorder, most frequently associated with pathogenic variants in ENG or ACVRL1, resulting in multisystem arteriovenous malformations...Hereditary haemorrhagic telangiectasia (HHT) is an uncommon autosomal dominant vascular disorder, most frequently associated with pathogenic variants in ENG or ACVRL1, resulting in multisystem arteriovenous malformations (AVMs). We report a middle-aged woman with primary antiphospholipid syndrome on chronic enoxaparin therapy who presented with exertional dyspnoea. CT demonstrated bilateral pulmonary AVMs (PAVMs), and clinical evaluation revealed mucocutaneous telangiectasias. Genetic testing identified an ENG mutation, confirming HHT type 1 according to the three Curaçao criteria. Selective microcoil embolisation of PAVMs with feeding arteries >3 mm led to marked improvement in functional capacity. HHT1 is predominantly associated with pulmonary and cerebral AVMs, whereas HHT2 and juvenile polyposis-hereditary haemorrhagic telangiectasia syndrome involve hepatic and gastrointestinal manifestations. Diagnostic assessment relies on echocardiographic contrast studies and CT angiography. Embolisation represents the standard of care for significant PAVMs with periodic radiological surveillance recommended. This case underscores the importance of early recognition and multidisciplinary management to mitigate HHT-associated complications.
Moorthy S, Raj EH, Sundersingh S
… +1 more, Raja A
BMJ Case Rep
· 2026 May · PMID 42209022
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A woman in her 60s with a prior history of cervical carcinoma treated with chemoradiation presented with a polypoidal vaginal lesion nearly 7 years after initial therapy. Histopathology confirmed osteosarcoma confined to...A woman in her 60s with a prior history of cervical carcinoma treated with chemoradiation presented with a polypoidal vaginal lesion nearly 7 years after initial therapy. Histopathology confirmed osteosarcoma confined to the posterior vaginal wall, with imaging excluding metastases. Total vaginectomy was performed, and final diagnosis was radiation-induced vaginal osteosarcoma. Although adjuvant chemotherapy was recommended, the patient declined. 6 months later, local recurrence and lung metastases developed. This case highlights the rare occurrence of radiation-induced osteosarcoma at the vaginal vault, emphasising the importance of long-term surveillance following pelvic radiotherapy for gynaecological malignancies.
Aboumoussa I, Murugesan C, Jafari LS
… +1 more, Ahmed M
BMJ Case Rep
· 2026 May · PMID 42191231
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A man in his 50s with poorly controlled diabetes and chronic kidney disease presented with rapidly progressive bilateral facial diplegia 1 week after hospitalisation for pneumonia. Examination demonstrated symmetric lowe...A man in his 50s with poorly controlled diabetes and chronic kidney disease presented with rapidly progressive bilateral facial diplegia 1 week after hospitalisation for pneumonia. Examination demonstrated symmetric lower motor neuron facial weakness without limb involvement; reflexes were 1+ throughout. Brain and internal auditory canal MRI were unremarkable. Cerebrospinal fluid showed albuminocytologic dissociation (protein 151 mg/dL, WBC 3 /mm³). Serum antiganglioside antibody testing was positive for GM2 IgG at 72 IV. CSF infectious studies were positive for West Nile virus IgM (3.07) and IgG (2.81), confirming acute neuroinvasive infection during Missouri's 2025 outbreak. The patient was treated with intravenous immunoglobulin and showed progressive improvement in facial strength, eye closure and speech, with continued recovery at 4 weeks. This case emphasises West Nile virus as a potential precipitant of facial diplegic Guillain-Barré syndrome.
BMJ Case Rep
· 2026 May · PMID 42191230
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Urinary ascites due to spontaneous rupture of the urinary bladder is a rare and frequently misdiagnosed condition that can mimic acute kidney failure through reabsorption of creatinine across the peritoneum. We report th...Urinary ascites due to spontaneous rupture of the urinary bladder is a rare and frequently misdiagnosed condition that can mimic acute kidney failure through reabsorption of creatinine across the peritoneum. We report the case of a middle-aged woman presenting with abdominal pain, ascites and acute renal failure without an obvious cause. A significant discrepancy between creatinine-based and cystatin-C-based estimated glomerular filtration rate together with elevated creatinine in ascitic fluid confirmed pseudo-renal failure due to urinary ascites. CT scan with a late urography phase identified two small intraperitoneal bladder defects. The patient was successfully treated conservatively with continuous Foley catheter drainage for 6 weeks, resulting in complete recovery. This case highlights the diagnostic value of measuring creatinine in ascitic fluid, the role of cystatin C in suspected pseudo-renal failure and supports conservative management in selected cases of intraperitoneal bladder rupture.
BMJ Case Rep
· 2026 May · PMID 42191229
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A man in his 60s presented with progressive, symmetric weakness of the shoulder and thigh girdles despite normal creatine kinase and electromyography findings. Lumbar spine MRI revealed only age-appropriate degenerative...A man in his 60s presented with progressive, symmetric weakness of the shoulder and thigh girdles despite normal creatine kinase and electromyography findings. Lumbar spine MRI revealed only age-appropriate degenerative changes, insufficient to explain his symptoms. A targeted 60-gene next-generation sequencing panel identified a heterozygous c.179C>T (p.Ser60Phe) variant, confirming -related myofibrillar myopathy. Cardiac evaluation demonstrated mild aortic-root dilatation, mitral regurgitation and frequent premature atrial contractions. The patient underwent supervised eccentric-strengthening physiotherapy with stable function over 1 year. This case underscores that myopathy can present with preserved enzyme levels and normal electrodiagnostic studies, risking diagnostic delay if clinicians rely solely on conventional testing. Early gene-panel sequencing in patients with unexplained proximal weakness can expedite diagnosis, guide cardiac surveillance and inform family cascade testing.
Ruksuthee C, Theerasuwipakorn N, Boonyaratavej S
… +1 more, Kosum P
BMJ Case Rep
· 2026 May · PMID 42191228
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Coronary artery embolism is a relatively infrequent cause of myocardial infarction (MI). This case report presents a case of acute ST-segment elevation MI in the anterolateral wall consistent with suspected coronary embo...Coronary artery embolism is a relatively infrequent cause of myocardial infarction (MI). This case report presents a case of acute ST-segment elevation MI in the anterolateral wall consistent with suspected coronary embolism originating from a calcified bicuspid aortic valve. Comprehensive coronary angiography revealed no significant findings in the coronary arteries. Transthoracic echocardiogram demonstrated normal left ventricular systolic function accompanied by mid-to-apical anterior and anteroseptal wall akinesia. Notably, severe calcific bicuspid aortic stenosis with moderate aortic regurgitation was also observed. Further cardiac magnetic resonance imaging confirmed nearly transmural myocardial necrosis, myocardial oedema and a substantial region of microvascular obstruction in the proximal left anterior descending (LAD) artery territory, indicating a recent MI in the proximal LAD territory, as well as the presence of an Left ventricular (LV) apical thrombus. Consequently, the patient awaited aortic valve replacement to address the underlying pathology.
Ojima S, Kubozono T, Kawabata T
… +6 more, Kawasoe S, Yamaguchi S, Enokida Y, Mukai S, Kanda D, Ohishi M
BMJ Case Rep
· 2026 May · PMID 42191227
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Fulminant myocarditis (FM) is a life-threatening inflammatory cardiac disease that can rapidly progress to cardiogenic shock or fatal arrhythmias. Delayed-onset FM following coronavirus disease 2019 (COVID-19) infection...Fulminant myocarditis (FM) is a life-threatening inflammatory cardiac disease that can rapidly progress to cardiogenic shock or fatal arrhythmias. Delayed-onset FM following coronavirus disease 2019 (COVID-19) infection is rare and cases complicated by sustained ventricular fibrillation (VF) are exceptional.A previously healthy man in his late teens developed dyspnoea and complete atrioventricular block after COVID-19 infection. Echocardiography revealed a left ventricular ejection fraction of 30%. Despite veno-arterial extracorporeal membrane oxygenation and Impella CP support, he developed persistent VF lasting for five days, refractory to amiodarone and repeated defibrillation. Continuous intravenous infusion of nifekalant hydrochloride terminated VF and converted to sinus rhythm. Endomyocardial biopsy demonstrated CD68 macrophage-predominant inflammation, consistent with COVID-19-associated myocarditis.This case suggests that nifekalant may be a valuable therapeutic option for managing life-threatening ventricular arrhythmias while preserving myocardial contractility in FM following COVID-19 infection.
BMJ Case Rep
· 2026 May · PMID 42185017
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Trigeminal trophic syndrome (TTS) is an unusual presentation of painless facial ulceration with associated facial anaesthesia and paraesthesia. The syndrome stems from injury to branches of the trigeminal nerve. TTS can...Trigeminal trophic syndrome (TTS) is an unusual presentation of painless facial ulceration with associated facial anaesthesia and paraesthesia. The syndrome stems from injury to branches of the trigeminal nerve. TTS can also be triggered by conditions such as ischaemic strokes and herpes zoster virus. The altered superficial sensation to the skin causes irritation along the distribution of the trigeminal nerve, usually described as burning and tingling. This sensation leads to repetitive scratching and rubbing over the affected area. Self-manipulation injuries then progress into an erosive ulcer, typically around the cheek, face and lateral nasal ala. We present the cases of two patients with erosive lateral nasal ulcers and a history of ipsilateral vestibular schwannoma repair. In both cases, symptoms resolved following diagnosis and treatment for TTS. We also provide a literature review of the condition, including a summary of the most recently published case reports.
BMJ Case Rep
· 2026 May · PMID 42185016
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A woman in her mid-40s presented with progressive shortness of breath, high-protein ascites, omental thickening and hypercalcaemia. Initially suspected to have disseminated tuberculosis (TB), the patient did not respond...A woman in her mid-40s presented with progressive shortness of breath, high-protein ascites, omental thickening and hypercalcaemia. Initially suspected to have disseminated tuberculosis (TB), the patient did not respond to the antitubercular therapy. Further evaluation revealed non-caseating granulomas on omental biopsy and elevated serum Angiotensin- Converting Enzyme (ACE) levels, confirming the diagnosis of sarcoidosis. This case highlights a diagnostic dilemma between sarcoidosis and TB, particularly in regions with high disease prevalence. This underscores the importance of integrating the clinical, radiological and histopathological findings for accurate diagnosis and management.
BMJ Case Rep
· 2026 May · PMID 42173546
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We report the case of a young, nulliparous woman who presented with bilateral gigantomastia secondary to juvenile fibroadenomas and pseudoangiomatous stromal hyperplasia (PASH). Despite undergoing multiple lumpectomies a...We report the case of a young, nulliparous woman who presented with bilateral gigantomastia secondary to juvenile fibroadenomas and pseudoangiomatous stromal hyperplasia (PASH). Despite undergoing multiple lumpectomies and reduction mammoplasty, she developed recurrent disfiguring breast enlargement with a significant psychosocial impact. Imaging and biopsy confirmed the presence of benign fibroepithelial lesions without malignant features. Given the aggressive recurrence, she underwent bilateral nipple-sparing mastectomy with immediate implant and latissimus dorsi flap reconstruction. Histopathological examination revealed fibroadenomatoid change with stromal fibrosis and PASH-like areas. This case highlights the rare but aggressive behaviour of juvenile fibroadenomas with coexisting PASH and underscores the need for early definitive surgical intervention in select patients. A multidisciplinary, patient-centred approach is essential to address both clinical and psychosocial needs, especially in young women in conservative sociocultural contexts.